Incidental Mutation 'R0839:Syf2'
ID 78094
Institutional Source Beutler Lab
Gene Symbol Syf2
Ensembl Gene ENSMUSG00000028821
Gene Name SYF2 homolog, RNA splicing factor (S. cerevisiae)
Synonyms Ntc31, Cbpin, 1110018L13Rik, mp29, D4Bwg1551e, p29, Gcipip
MMRRC Submission 039018-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0839 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 134658291-134664848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134663374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 182 (V182D)
Ref Sequence ENSEMBL: ENSMUSP00000030622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030622]
AlphaFold Q9D198
Predicted Effect probably damaging
Transcript: ENSMUST00000030622
AA Change: V182D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030622
Gene: ENSMUSG00000028821
AA Change: V182D

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
low complexity region 74 86 N/A INTRINSIC
Pfam:SYF2 89 237 9.8e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156334
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele fail to undergo normal gastrulation and exhibit complete embryonic lethality, severely impaired embryonic development, and abnormal cell cycle checkpoint function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,920,527 (GRCm39) V1083M probably damaging Het
Aco2 A G 15: 81,791,736 (GRCm39) probably null Het
AI661453 A T 17: 47,747,752 (GRCm39) Q8L probably null Het
Ankrd42 T C 7: 92,261,980 (GRCm39) D295G possibly damaging Het
Ccdc73 A T 2: 104,821,442 (GRCm39) I464L probably benign Het
Cdc5l A C 17: 45,704,073 (GRCm39) M717R probably benign Het
Col4a1 G A 8: 11,271,015 (GRCm39) P809S probably damaging Het
Dctn1 T C 6: 83,167,459 (GRCm39) M358T possibly damaging Het
Dgkz A G 2: 91,765,456 (GRCm39) S799P probably benign Het
Dna2 T C 10: 62,805,561 (GRCm39) C933R probably damaging Het
Dock6 T C 9: 21,729,188 (GRCm39) N1275S probably benign Het
Ect2l A G 10: 18,017,652 (GRCm39) I659T probably benign Het
Ets1 T A 9: 32,645,357 (GRCm39) Y201* probably null Het
Gle1 T A 2: 29,848,462 (GRCm39) C679S probably benign Het
Gm10118 T G 10: 63,762,643 (GRCm39) probably benign Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
H2-Q7 A G 17: 35,658,688 (GRCm39) S109G probably damaging Het
Igfn1 A G 1: 135,882,418 (GRCm39) V2809A probably damaging Het
Izumo1 T A 7: 45,276,536 (GRCm39) D366E probably benign Het
Kctd20 A T 17: 29,176,872 (GRCm39) M1L possibly damaging Het
Lct C T 1: 128,214,346 (GRCm39) A1809T probably benign Het
Manea T C 4: 26,327,983 (GRCm39) I353V probably damaging Het
Mybl2 T C 2: 162,917,688 (GRCm39) Y65H probably benign Het
Myh11 C T 16: 14,021,042 (GRCm39) E1744K probably damaging Het
Neb T C 2: 52,167,560 (GRCm39) D1922G probably damaging Het
Nepro C A 16: 44,556,382 (GRCm39) D513E probably benign Het
Nnt A T 13: 119,531,192 (GRCm39) I185K possibly damaging Het
Npat A T 9: 53,456,480 (GRCm39) Q17L probably damaging Het
Nup155 A G 15: 8,175,071 (GRCm39) E956G possibly damaging Het
Or1e35 T A 11: 73,798,138 (GRCm39) Y60F probably damaging Het
Or1x6 A G 11: 50,939,254 (GRCm39) I107V probably benign Het
Or2a14 T A 6: 43,130,558 (GRCm39) F106L probably benign Het
Or4q3 A G 14: 50,583,545 (GRCm39) V118A probably damaging Het
Or8g18 A T 9: 39,149,146 (GRCm39) N191K possibly damaging Het
Or8g4 A T 9: 39,661,687 (GRCm39) I2L probably benign Het
Or9e1 G A 11: 58,732,478 (GRCm39) M179I probably benign Het
Pah T C 10: 87,357,924 (GRCm39) S16P probably damaging Het
Pcdh15 C A 10: 74,462,614 (GRCm39) P1365Q probably null Het
Pds5b G T 5: 150,688,427 (GRCm39) V640F probably benign Het
Pgam5 A T 5: 110,414,996 (GRCm39) H72Q probably benign Het
Plagl2 C A 2: 153,074,461 (GRCm39) A147S probably damaging Het
Ppfia4 A T 1: 134,256,545 (GRCm39) L113Q probably null Het
Ppp1r12a T C 10: 108,034,722 (GRCm39) V89A probably damaging Het
Ptprc A G 1: 138,028,870 (GRCm39) Y443H possibly damaging Het
Ralgapb T C 2: 158,315,203 (GRCm39) probably null Het
Rgsl1 A G 1: 153,677,980 (GRCm39) probably null Het
Rubcn A C 16: 32,647,713 (GRCm39) I681M probably damaging Het
Scaf11 A G 15: 96,321,434 (GRCm39) L169S probably damaging Het
Scgb1b27 A G 7: 33,721,276 (GRCm39) K55E probably benign Het
Sos1 A T 17: 80,741,159 (GRCm39) I542N probably damaging Het
Tapbp T C 17: 34,144,717 (GRCm39) V271A probably benign Het
Tmem33 T A 5: 67,421,651 (GRCm39) L60Q probably damaging Het
Tmf1 A G 6: 97,153,284 (GRCm39) V263A probably damaging Het
Vps13c T C 9: 67,806,020 (GRCm39) V798A probably benign Het
Zfp384 C A 6: 125,013,631 (GRCm39) D550E probably benign Het
Other mutations in Syf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02207:Syf2 APN 4 134,662,363 (GRCm39) splice site probably null
R1475:Syf2 UTSW 4 134,662,745 (GRCm39) missense possibly damaging 0.52
R4673:Syf2 UTSW 4 134,661,804 (GRCm39) missense probably damaging 1.00
R4954:Syf2 UTSW 4 134,662,283 (GRCm39) nonsense probably null
R5309:Syf2 UTSW 4 134,663,380 (GRCm39) missense probably benign 0.35
R6256:Syf2 UTSW 4 134,661,889 (GRCm39) missense probably damaging 0.98
R8141:Syf2 UTSW 4 134,664,182 (GRCm39) missense probably damaging 1.00
R8334:Syf2 UTSW 4 134,658,586 (GRCm39) missense probably benign 0.16
R9266:Syf2 UTSW 4 134,663,321 (GRCm39) missense possibly damaging 0.55
Z1176:Syf2 UTSW 4 134,664,275 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- AACAGGCGTTAGGCCCTGACTTTC -3'
(R):5'- CCAGATTACGGGTCACAAGTGAGC -3'

Sequencing Primer
(F):5'- GACTTTCCTTGGAGAGATCCCG -3'
(R):5'- AGTGAGCTGGGATCACTGC -3'
Posted On 2013-10-16